People may learn that they have a gene mutation linked to certain types of cardiovascular disease (CVD) as the use of genetic testing increases. To better inform people and medical professionals about what to do when a variant is found. A new scientific statement was published today in the American Heart Association journal Circulation: Genomic and Precision Medicine. The American Heart Association’s Scientific Statement is a professional assessment of recent findings that may influence future recommendations.
The new position statement, “Interpreting Incidentally Identified Variants in Genes Associated with Hereditary Heart Disease,” provides guidance to health professionals on how to interact with patients and their families and to provide appropriate care for those people. Suggests follow-up measures that are thought to increase CVD risk. It also suggests next steps to determine if a variant poses a health risk.
Variants associated with heart disease risk are often found “incidentally” when people undergo genetic testing for non-cardiac-related reasons, including to screen for or diagnose other diseases. These unintended genetic variants can also be discovered with genetic testing through direct-to-consumer DNA testing kits.
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Pretest genetic counseling is strongly encouraged to prepare patients for the possibility of incidental findings, how and whether findings will be communicated, and the potential implications for themselves and family members. Andrew P. Landstrom, MD, PhD, FAHA, Chair of the Scientific Statement Writing Committee, said, “The scope and use of genetic testing has grown tremendously over the past decade with the increasing ease and low cost of DNA sequencing.” associate professor of pediatrics and cell biology at Duke University School of Medicine in Durham, North Carolina.
“Where we would once look for genetic changes in a few genes, we can now sequence every gene and potentially the entire genome, allowing us to make genetic diagnoses that would have been impossible in the past. However, in genetic testing With growth comes more surprises, including finding unexpected variations in genes that may be associated with cardiovascular disease.”
If we misinterpret these contingency forms, it can lead to inappropriate care, either by suggesting that patients are at risk of heart disease when they are not, or by presenting those at increased risk for a serious condition. People don’t care. This statement is the first to focus on inherited monogenic, or single-gene, diseases for CVD that can be passed down within families, such as hypertrophic cardiomyopathy or long QT syndrome.
According to the American College of Medical Genetics and Genomics, there are currently 42 clinically treatable, secondary variant genes that increase the risk of disease or death from sudden cardiac death, heart failure, and other types of heart disease. Are. The genetic variants that cause long QT syndrome cause the heart to reset at a slower than normal rate after each contraction, which can lead to electrical instability of the heart and can also lead to fainting, arrhythmias, or sudden death.
“Development of the list of cardiovascular disease-associated variants is ongoing. This statement provides a foundation of care that can help people with CVD-related genetic variants and their health care professionals take the next steps in determining individual and family risk.” There may or may not be a variant,” Landstrom said.
“It is also important to consult with genetics experts to custom-tailor the assessment and treatment plan for both the individual and genetic variant to ensure the highest level of care.”